Objective: To learn about atypical presentation of Dopa-responsive dystonia (DRD) and give correct diagnose in time.

Background: DRD compasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia and exhibit a robust and sustained response to levodopa treatment. But there is many atypical clinical features or atypical onset pattern underlie DRD frequently leads to misdiagnosis, which delays the appropriate treatment with levodopa.

Method: Case report.

Results: A 41-year right-handed female presented with swallowing difficulty for about one and a half year. One and a half year ago she began to chew involuntarily and her teeth hurt very seriously. Her tongue moved involuntarily like chorea. She couldn’t swallow solid food and liquid at night and she described like sticky and block sensation in the larynx. In the morning swallowing was better with some liquid.The problem progressed gradually and became very severe 1 year ago. Her teeth wore down and lost many because of uncontrolled chewing movement. She lose weight and got gastric tube a half year ago. Examination showed mild parkinsonism symptom in the limbs and remarkable oromandibular dystonia. Beuroacanthocytosis (NA) and HSD were considered,we gave her gene test. But we got unexpected GCH1 gene heterozygous mutation with c.239G>A chr14-55369143 p.S80N which was first reported in China. Dopa-responsive dystonia was considered. Low dose of levodopa (0.125mg per day) ameliorated involuntary chewing and tongue movement but swallowing was not better. DRD was diagnosed.

Conclusion: This report present a rare case of DRD which is late onset, progressive swallowing difficulty as main problem with oromandibular dystonia. Our case widen the clinical spectrum of DRD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-presentation-of-dopa-responsive-dystonia-late-onset-with-severe-swallowing-difficulty/